A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518828



Internal ID295195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:292175..315522hg38UCSC Ensembl
chr19:292175..315522hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3823348
hg1923348
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17720029
Samples
Known GenesMIER2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518828
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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